运动神经元病
Motor neuron disease
ORPHA:98503疾病组
别名
前角细胞病
相关基因 49来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ALS2 | alsin Rho guanine nucleotide exchange factor ALS2 | ORPHA:300605 |
| ANG | angiogenin | ORPHA:803 |
| ANXA11 | annexin A11 | ORPHA:803 |
| ASAH1 | N-acylsphingosine amidohydrolase 1 | ORPHA:2590 |
| ASCC1 | activating signal cointegrator 1 complex subunit 1 | ORPHA:486811 |
| ATP13A2 | ATPase cation transporting 13A2 | ORPHA:300605 |
| ATXN2 | ataxin 2 | ORPHA:98756 |
| C9ORF72 | C9orf72-SMCR8 complex subunit | ORPHA:803 |
| CCNF | cyclin F | ORPHA:803 |
| CFAP410 | cilia and flagella associated protein 410 | ORPHA:803 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:803 |
| CHMP2B | charged multivesicular body protein 2B | ORPHA:803 |
| DAO | D-amino acid oxidase | ORPHA:803 |
| DES | desmin | ORPHA:85146 |
| ERBB4 | erb-b2 receptor tyrosine kinase 4 | ORPHA:803 |
| ERLIN1 | ER lipid raft associated 1 | ORPHA:300605 |
| ERLIN2 | ER lipid raft associated 2 | ORPHA:247604 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase | ORPHA:803 |
| FUS | FUS RNA binding protein | ORPHA:803 |
| GLE1 | GLE1 RNA export mediator | ORPHA:803 |
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | ORPHA:300605 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:803 |
| IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ORPHA:98920 |
| LAS1L | LAS1 like ribosome biogenesis factor | ORPHA:404521 |
| LRP12 | LDL receptor related protein 12 | ORPHA:803 |
| MATR3 | matrin 3 | ORPHA:803 |
| OPTN | optineurin | ORPHA:803 |
| PFN1 | profilin 1 | ORPHA:803 |
| PLEKHG5 | pleckstrin homology and RhoGEF domain containing G5 | ORPHA:206580 |
| SETX | senataxin | ORPHA:357043 |
| SIGMAR1 | sigma non-opioid intracellular receptor 1 | ORPHA:300605 |
| SLC52A2 | solute carrier family 52 member 2 | ORPHA:572543 |
| SLC52A3 | solute carrier family 52 member 3 | ORPHA:572550 |
| SOD1 | superoxide dismutase 1 | ORPHA:803 |
| SORD | sorbitol dehydrogenase | ORPHA:300605 |
| SPG11 | SPG11 vesicle trafficking associated, spatacsin | ORPHA:300605 |
| SPG7 | SPG7 matrix AAA peptidase subunit, paraplegin | ORPHA:35689 |
| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | ORPHA:300605 |
| SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | ORPHA:300605 |
| SQSTM1 | sequestosome 1 | ORPHA:803 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:300605 |
| TARDBP | TAR DNA binding protein | ORPHA:803 |
| TRIP4 | thyroid hormone receptor interactor 4 | ORPHA:486811 |
| TRMT2B | tRNA methyltransferase 2B | ORPHA:300605 |
| TRPV4 | transient receptor potential cation channel subfamily V member 4 | ORPHA:431255 |
| UBA1 | ubiquitin like modifier activating enzyme 1 | ORPHA:1145 |
| UBQLN2 | ubiquilin 2 | ORPHA:803 |
| VAPB | VAMP associated protein B and C | ORPHA:803 |
| VCP | valosin containing protein | ORPHA:803 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）